‘Physician-Scientists’ Transform Health Care For Amish, Mennonite

‘Physician-Scientists’ Transform Health Care For Amish, Mennonite

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By Amy Worden, The Philadelphia Inquirer

STRASBURG, Pa. — Weeks after his birth in 2001, Benjamin Glick was stricken with a mysterious illness.
He would vomit and pass out. He wouldn’t eat and lost weight. Over five agonizing months, his parents took him to 12 doctors at six hospitals in the Philadelphia area.
“He was fading out, we were going to lose him,” said his father, Amos Glick, who is Old Order Amish and runs a foundry in Chester County.
It took a clinic in a Lancaster County cornfield to save the boy.
Doctors at Children’s Hospital of Philadelphia sent the family to the Clinic for Special Children in Strasburg. For years, the site had been refining an unusual specialty: treating Amish and Mennonite children with rare genetic disorders.
Clinic doctors had seen similar symptoms in other children from the insular population they serve. They discovered Benjamin had a debilitating milk-protein allergy and fine-tuned his formula. Benjamin stabilized in a month.
There was no genetic diagnosis, but two of his siblings born later suffered similar symptoms. Together, their medical histories will provide a foundation for what may lead to a genetic link.
A big hospital likely would have treated each child individually, never making the connection to help those children and others, said Kevin Strauss, a pediatrician and the clinic’s medical director. The case was also meaningful for another reason.
“The modern American medical system,” he said, “didn’t have a place for them to go.”
In the 25 years since its founding, the clinic has transformed pediatric health care for an underserved population, turned diseases from death sentences into treatable conditions, and broken ground in genetics that could one day lead to cures for diseases that afflict the wider population.
The barn-like building, raised in a day by Amish and Mennonite craftsmen, has parking spots for horses and buggies out front, and dairy cows graze out back. Inside, 63-year-old pediatrician D. Holmes Morton and his team practice cutting-edge medicine.
Morton was a Children’s Hospital fellow in 1988 when he encountered a 6-year-old Amish boy with an undiagnosed disease that left him brain damaged and unable to use his limbs.
Doctors thought it was cerebral palsy. Morton, a specialist in biochemical genetics, identified Danny Lapp’s disease as glutaric aciduria type 1 (GA1), a metabolic disease that attacks the brain with sudden and catastrophic results.
At the time, there were only eight known cases.
The Lapp case changed Morton’s life and led to discoveries that have since saved many of the 2,500 patients he has seen. GA1 is one of more than 150 diseases or genetic mutations the clinic has identified that affect the Amish and Mennonites of Lancaster County — but that are not exclusive to them.
The county’s 60,000 Plain People, as they are called, descended from fewer than 100 settlers who came to Lancaster from Europe in the early 1700s. Centuries of intermarriage have increased the risk for developing many conditions.
For instance, Amish babies are 100 times more likely to have GA1 than other infants. At the same time, Morton said, diseases that strike the general population, such as cystic fibrosis and sickle cell disease, are nonexistent among the Plain People.
Before 1990, 90 percent of children suffering from GA1 had irreversible brain damage that left most of them severely disabled. Now, if caught early, those with the disease suffer no brain injury and, with vitamins and dietary restrictions, those the clinic treats have been able to live normal lives.
Vanessa Guimaraes’ 3-year-old daughter was diagnosed with GA1 during a newborn screening. Guimaraes, a native of Brazil living at the time in Hawaii, decided to move to Lancaster to be close to treatment.
“I thank God every day for the clinic,” she said.
Jan Bergen, chief operating officer at Lancaster General Hospital, said she was “awestruck” by the small clinic’s big results.
“They are unique in the world,” said Bergen, who works with the clinic on research.
Born in Fayetteville, W.Va., Morton was a high school dropout before, as he puts it, talking his way into Trinity College. Later, he was accepted at Harvard Medical School.
After Children’s Hospital, Morton decided he wanted to bring medicine to the people but found making inroads with the Amish and Mennonite difficult. A handful, mostly skeptics, came to his first meeting in 1988.
Last month, several thousand Plain People were on hand for a quilt auction to benefit the clinic. Morton rose to thank them for their help, gazing out over a sea of straw hats and prayer caps.
“I think of the clinic as a health care model,” he said in his office later.
In addition to seeing patients every day, clinic researchers publish three to five peer-reviewed papers a year and participate in 25 research projects with hospitals worldwide.
Strauss, the Harvard-trained medical director, said if he had taken a traditional path, he’d be spending his career in a large hospital lab “with mice and fruit flies.” He describes himself today as a physician-scientist, with patient care guiding him.
“We do research on whatever problem comes through the door,” he said.
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Forty percent of the patients diagnosed have treatable — if not curable — conditions. Another 40 percent are partially treatable. The remaining 20 percent have terminal conditions.
Some leave with no diagnosis. That’s where Erik Puffenberger comes in.
On a recent afternoon, Puffenberger, a geneticist and the clinic’s lab director, sat hunched over vials of DNA in a basement lab.
When Morton founded the clinic, he said, he thought he might find 10 to 20 new diseases in his career. Puffenberger identifies five to 10 gene mutations a year.
A freezer contains 8,000 DNA samples from patients that Puffenberger says will provide the foundation for understanding as-yet-unidentified diseases.
He’s working on developing a quicker, cheaper test for Down syndrome among newborns. “Our patients have no insurance and they may be of limited means,” Puffenberger said.
With a staff of 14 and an annual budget of $2.6 million — one-third funded by quilt auctions, the rest by fees and donations — the clinic has been able to offer its largely uninsured patients services at a fraction of a hospital’s cost.
Morton, recipient of the Albert Schweitzer Prize for Humanitarianism and a MacArthur Foundation “genius grant,” is looking to the future. The clinic recently started a fellowship to cultivate the next generation of physician-scientists, and Morton is involved in building a clinic to serve the Amish population near State College.
The treatment Glick’s son Benjamin got 13 years ago made the difference for two of his other six children. Daughters Naomi and Katie, now 7 and 3, were diagnosed quickly and spared any suffering.
“What’s really inspiring to me is that these doctors and scientists could be working in fancy hospitals making six-figure incomes, but they have — as Dr. Puffenberger put it — chosen the road less traveled,” Glick said. “They are making a serious difference in families like ours in our local community and in Brazil and India and Canada from this little place in a cornfield.”